“Monoallelic germline methylation and sequence variant in the promoter of the RB1 gene: a possible constitutive epimutation in hereditary retinoblastoma”

[1]  N. Bornfeld,et al.  Loss at chromosome arm 16q in retinoblastoma: Confirmation of the association with diffuse vitreous seeding and refinement of the recurrently deleted region , 2011, Genes, chromosomes & cancer.

[2]  M. Furlan-Magaril,et al.  Gain of DNA methylation is enhanced in the absence of CTCF at the human retinoblastoma gene promoter , 2011, BMC Cancer.

[3]  L. Hesson,et al.  Epimutations and cancer predisposition: importance and mechanisms. , 2010, Current opinion in genetics & development.

[4]  M. Hitchins,et al.  Inheritance of epigenetic aberrations (constitutional epimutations) in cancer susceptibility. , 2010, Advances in genetics.

[5]  R. Siebert,et al.  The Human Retinoblastoma Gene Is Imprinted , 2009, PLoS genetics.

[6]  M. Tucker,et al.  Cause-specific mortality in long-term survivors of retinoblastoma. , 2009, Journal of the National Cancer Institute.

[7]  Suet Yi Leung,et al.  Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1 , 2009, Nature Genetics.

[8]  Arun D. Singh,et al.  Incidence of retinoblastoma in the USA: 1975–2004 , 2008, British Journal of Ophthalmology.

[9]  D. Weisenburger,et al.  Downregulation of Death-Associated Protein Kinase 1 (DAPK1) in Chronic Lymphocytic Leukemia , 2007, Cell.

[10]  F. Recillas-Targa,et al.  Epigenetic regulation of the human retinoblastoma tumor suppressor gene promoter by CTCF. , 2007, Cancer research.

[11]  Elzbieta Wloga,et al.  Visualizing Dynamic E2F-Mediated Repression In Vivo , 2006, Molecular and Cellular Biology.

[12]  K. Ishizaki,et al.  Parental origin of germ-line and somatic mutations in the retinoblastoma gene , 1994, Human Genetics.

[13]  K. Hemminki,et al.  Clinical genetic counselling for familial cancers requires reliable data on familial cancer risks and general action plans , 2004, Journal of Medical Genetics.

[14]  B. Gallie,et al.  Retinoblastoma: Revisiting the model prototype of inherited cancer , 2004, American journal of medical genetics. Part C, Seminars in medical genetics.

[15]  K. Offit,et al.  Referral for cancer genetics consultation: a review and compilation of risk assessment criteria , 2004, Journal of Medical Genetics.

[16]  M. Spence,et al.  Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene , 1992, Human Genetics.

[17]  B. Horsthemke,et al.  Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma , 1989, Human Genetics.

[18]  D. Higgs,et al.  Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease , 2003, Nature Genetics.

[19]  D. Lohmann,et al.  A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene. , 2002, American journal of human genetics.

[20]  D. Higgs,et al.  alpha-thalassemia resulting from a negative chromosomal position effect. , 2000, Blood.

[21]  S. Antonarakis,et al.  Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion , 2000 .

[22]  T. Dryja,et al.  Hypermethylation in the retinoblastoma gene is associated with unilateral, sporadic retinoblastoma. , 1997, Cancer genetics and cytogenetics.

[23]  S. Clark,et al.  Extensive DNA methylation spanning the Rb promoter in retinoblastoma tumors. , 1997, Cancer research.

[24]  J. Cowell,et al.  A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene. , 1996, Oncogene.

[25]  H. Handa,et al.  The retinoblastoma binding factor 1 (RBF-1) site in RB gene promoter binds preferentially E4TF1, a member of the Ets transcription factors family. , 1994, Oncogene.

[26]  T. Dryja,et al.  A silencer element in the retinoblastoma tumor-suppressor gene. , 1994, Oncogene.

[27]  C. Sapienza,et al.  The genetics of retinoblastoma, revisited. , 1994, American journal of human genetics.

[28]  T. Sakai,et al.  CpG methylation inactivates the promoter activity of the human retinoblastoma tumor-suppressor gene. , 1993, Oncogene.

[29]  T. L. McGee,et al.  Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene , 1991, Nature.

[30]  T. Dryja,et al.  Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. , 1991, American journal of human genetics.

[31]  W. Benedict,et al.  Preferential retention of paternal alleles in human retinoblastoma: evidence for genomic imprinting. , 1990, Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research.

[32]  A. Knudson Mutation and cancer: statistical study of retinoblastoma. , 1971, Proceedings of the National Academy of Sciences of the United States of America.

[33]  H. M. Traquair HEREDITARY GLIOMA OF THE RETINA , 1919, The British journal of ophthalmology.